Tuberous sclerosis is associated with epilepsy in up to 85% of cases, and in 2/3, the onset is within the first year of life. An early antiepileptic treatment is crucial to minimize the consequences of epilepsy on cognition and behavior. We present a case report of a child with tuberous sclerosis who presented with infantile spasms at the age of 6 months, immediately treated with vigabatrin. Because of the presence of a subependymal giant cell astrocytoma, he also received everolimus since 18 months of age. We might wonder if an earlier treatment could have produced a better outcome; in fact, despite a targeted combined treatment, he continues to suffer from sporadic focal motor seizures, and at the age of 40 months, he presents severe developmental delay with autism-like behavior.

Moavero, R., Marciano, S., Graziola, F., Curatolo, P. (2016). Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis. EPILEPSY & BEHAVIOR CASE REPORTS, 5, 13-16 [10.1016/j.ebcr.2015.12.001].

Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis

MOAVERO, ROMINA;CURATOLO, PAOLO
2016-01-01

Abstract

Tuberous sclerosis is associated with epilepsy in up to 85% of cases, and in 2/3, the onset is within the first year of life. An early antiepileptic treatment is crucial to minimize the consequences of epilepsy on cognition and behavior. We present a case report of a child with tuberous sclerosis who presented with infantile spasms at the age of 6 months, immediately treated with vigabatrin. Because of the presence of a subependymal giant cell astrocytoma, he also received everolimus since 18 months of age. We might wonder if an earlier treatment could have produced a better outcome; in fact, despite a targeted combined treatment, he continues to suffer from sporadic focal motor seizures, and at the age of 40 months, he presents severe developmental delay with autism-like behavior.
2016
Online ahead of print
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/39 - NEUROPSICHIATRIA INFANTILE
English
Early treatment; Epilepsy; Everolimus; Neurodevelopmental disorders; Tuberous sclerosis; Vigabatrin
Moavero, R., Marciano, S., Graziola, F., Curatolo, P. (2016). Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis. EPILEPSY & BEHAVIOR CASE REPORTS, 5, 13-16 [10.1016/j.ebcr.2015.12.001].
Moavero, R; Marciano, S; Graziola, F; Curatolo, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/157567
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